CRKL and MAPK1 genes have been suggested to have a role in the heart anomalies that are common in 22q11.2 distal deletion syndrome.
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Very distal deletions including the SMARCB1 gene are associated with an increased risk of malignant rhabdoid tumors.
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Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22.
In 2009, they appeared with Quinn Bradlee on the Charlie Rose show on PBS and spoke of Quinn being born with velo-cardio-facial syndrome, also known as 22q11.2 deletion and Shprintzen syndrome (named after Dr. Robert Shprintzen who first identified the disorder in 1978 and who also diagnosed Quinn Bradlee).